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Lesch-Nyhan Syndrome: Models, Theories, and Therapies

机译：Lesch-Nyhan综合征：模型，理论和疗法

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摘要

Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype.
机译：Lesch-Nyhan综合征（LNS）是由HPRT1（嘌呤挽救途径中的重要酶）突变引起的罕见X连锁疾病。 LNS的症状包括肌张力障碍，痛风，智障和自残。尽管已有50多年的历史了，但尚不清楚确切的是次黄嘌呤和鸟嘌呤再循环的缺陷如何导致如此深刻的神经学表型。几项研究针对该病的病因提出了不同的假设，并且已经对患者尝试了几种治疗方法，尽管没有一种方法能够对这种疾病做出令人满意的解释。下一代测序，光遗传学，基因组编辑和诱导性多能干细胞等新技术为绘制从基因型到表型的精确顺序途径提供了独特的机会。

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